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dbVar

Database of genomic structural variation

nsv4578623

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:95,331

Description:GRCh37/hg19 14q11.2-12(chr14:24505708-24601038)x1 AND not provided

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 231 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):24,036,499-24,131,829

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4578623	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000014.9	Chr14	24,036,499	24,131,829
nsv4578623	Remapped	Perfect	GRCh38.p12	PATCHES	First Pass	NW_018654722.1	Chr14\|NW_0 18654722.1	337,477	432,807
nsv4578623	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	24,505,708	24,601,038

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091875	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000995269.10, VCV000807188.16	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16091875	Remapped	Perfect	NW_018654722.1:g.( ?_337477)_(432807_ ?)del	GRCh38.p12	First Pass	NW_018654722.1	Chr14\|NW_0 18654722.1	337,477	432,807
nssv16091875	Remapped	Perfect	NC_000014.9:g.(?_2 4036499)_(24131829 _?)del	GRCh38.p12	Second Pass	NC_000014.9	Chr14	24,036,499	24,131,829
nssv16091875	Submitted genomic		NC_000014.8:g.(?_2 4505708)_(24601038 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	24,505,708	24,601,038

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091875	GRCh37: NC_000014.8:g.(?_24505708)_(24601038_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV000995269.10, VCV000807188.16	1

No genotype data were submitted for this variant

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